KEGG   Homo sapiens (human): 91147
Entry
91147             CDS       T01001                                 
Symbol
TMEM67, JBTS6, MECKELIN, MKS3, NPHP11, TNEM67
Name
(RefSeq) transmembrane protein 67
  KO
K19348  meckelin
Organism
hsa  Homo sapiens (human)
Disease
H00261  Meckel syndrome
H00530  Joubert syndrome and related disorders
H00537  Nephronophthisis
H01001  COACH syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   03037 Cilium and associated proteins [BR:hsa03037]
    91147 (TMEM67)
Cilium and associated proteins [BR:hsa03037]
 Primary cilia and associated proteins
  MKS complex
   91147 (TMEM67)
SSDB
Motif
Pfam: Meckelin
Other DBs
NCBI-GeneID: 91147
NCBI-ProteinID: NP_714915
OMIM: 609884
HGNC: 28396
Ensembl: ENSG00000164953
UniProt: Q5HYA8
Structure
Position
8:93754844..93832653
AA seq 995 aa
MATRGGAGVAMAVWSLLSARAVTAFLLLFLPRFLQAQTFSFPFQQPEKCDNNQYFDISAL
SCVPCGANQRQDARGTSCVCLPGFQMISNNGGPAIICKKCPENMKGVTEDGWNCISCPSD
LTAEGKCHCPIGHILVERDINGTLLSQATCELCDGNENSFMVVNALGDRCVRCEPTFVNT
SRSCACSEPNILTGGLCFSSTGNFPLRRISAARYGEVGMSLTSEWFAKYLQSSAAACWVY
ANLTSCQALGNMCVMNMNSYDFATFDACGLFQFIFENTAGLSTVHSISFWRQNLPWLFYG
DQLGLAPQVLSSTSLPTNFSFKGENQNTKLKFVAASYDIRGNFLKWQTLEGGVLQLCPDT
ETRLNAAYSFGTTYQQNCEIPISKILIDFPTPIFYDVYLEYTDENQHQYILAVPVLNLNL
QHNKIFVNQDSNSGKWLLTRRIFLVDAVSGRENDLGTQPRVIRVATQISLSVHLVPNTIN
GNIYPPLITIAYSDIDIKDANSQSVKVSFSVTYEMDHGEAHVQTDIALGVLGGLAVLASL
LKTAGWKRRIGSPMIDLQTVVKFLVYYAGDLANVFFIITVGTGLYWLIFFKAQKSVSVLL
PMPIQEERFVTYVGCAFALKALQFLHKLISQITIDVFFIDWERPKGKVLKAVEGEGGVRS
ATVPVSIWRTYFVANEWNEIQTVRKINSLFQVLTVLFFLEVVGFKNLALMDSSSSLSRNP
PSYIAPYSCILRYAVSAALWLAIGIIQVVFFAVFYERFIEDKIRQFVDLCSMSNISVFLL
SHKCFGYYIHGRSVHGHADTNMEEMNMNLKREAENLCSQRGLVPNTDGQTFEIAISNQMR
QHYDRIHETLIRKNGPARLLSSSASTFEQSIKAYHMMNKFLGSFIDHVHKEMDYFIKDKL
LLERILGMEFMEPMEKSIFYNDEGYSFSSVLYYGNEATLLIFDLLFFCVVDLACQNFILA
SFLTYLQQEIFRYIRNTVGQKNLASKTLVDQRFLI
NT seq 2988 nt   +upstreamnt  +downstreamnt
atggcgacgcgcggtggggctggggtggcaatggcggtttggtccctcttatccgcccgg
gccgtgaccgcgttccttctgttgttcctccctcgcttcttacaggcccagaccttctct
ttccctttccagcagccggagaagtgcgacaacaaccagtactttgatatctccgccctc
tcgtgtgttccttgtggagctaaccagaggcaagatgcccgaggaacttcatgtgtatgt
ctaccaggatttcagatgatctctaataatggaggacctgctattatttgtaaaaagtgc
ccagaaaacatgaaaggtgttacagaagatggctggaactgcatttcttgccctagtgac
ttaactgccgaaggaaaatgtcactgtcccattggccatattttagtggaaagagacatt
aatggaacattgttgtctcaagcaacttgtgagctctgtgatggaaatgaaaactctttt
atggtagtaaatgctttaggagacaggtgcgtccgatgtgagccaacatttgttaatacc
agcaggtcctgtgcatgttcagaacctaacattttaacagggggattatgtttcagcagc
acagggaattttcctctacgtagaatttcagctgcacgttatggagaagttggcatgtct
ttaacttcagaatggtttgcaaagtatttgcaatcatcagcagctgcatgttgggtatat
gccaatctaacatcttgtcaagctcttggaaatatgtgtgtgatgaacatgaattcttac
gactttgccacatttgatgcatgtggactatttcagtttatctttgaaaatactgctgga
ctgagcactgttcattctatttcattttggagacagaatcttccttggctgttttatgga
gaccagttaggattagcacctcaagtgctcagttctacctctcttcctacaaatttcagt
tttaaaggagaaaaccagaatacaaaactgaagtttgttgctgcttcctatgatataaga
ggaaattttctcaagtggcaaactttagaaggaggtgttttacagctttgtccagacaca
gagacaaggctaaatgctgcttattcatttggaacaacctaccaacaaaattgtgagatt
cctatctctaagatcttaattgactttcccactcctatattttatgatgtgtaccttgaa
tatactgatgaaaatcaacatcaatatattttggctgtgcctgtgttaaacctaaatctt
caacataataagatatttgtgaaccaagacagcaactctggaaagtggcttctaactcgg
cgcattttcttagtggatgcagtaagtggacgagaaaatgacttaggaactcagccaaga
gtaattcgagttgctactcaaatatcactgagtgtccaccttgtacccaacacaataaat
ggaaacatctaccctcccttaatcaccattgcctacagtgacattgatatcaaagatgcc
aacagccagtctgtgaaggtttctttctcagtcacatatgaaatggatcatggagaagca
catgtccagacagatattgctttgggtgtattgggtgggctagctgttttagcatctctt
ttgaagacagcaggatggaagaggcgcattgggagtcccatgattgatttacagacagtt
gtgaaattcttggtgtactatgctggtgatctggccaatgttttctttatcatcacagtg
ggaacaggtctttactggcttattttcttcaaagcacagaagtctgtgtctgttttgctg
ccaatgccaattcaggaagaacgttttgtcacttatgttggatgtgcctttgctctgaag
gcactacaatttttgcataagctcatatcccagattacaatagatgtattctttattgat
tgggagcgacctaaaggaaaggttcttaaagctgttgaaggtgagggtggtgtacgaagt
gccactgttcctgtaagcatatggagaacatattttgtagcaaatgaatggaatgaaatt
cagactgtgagaaaaattaattcactctttcaagtacttactgtcctcttctttttggag
gttgtgggattcaagaacttagcattaatggactcatcttctagtctttctagaaaccca
cctagctacatagctccttatagctgcattttgagatatgcagtgtctgctgctctttgg
ctagccattggaattatacaggtcgtgttctttgctgtcttttatgagagatttatagaa
gataaaattcgacagttcgttgatttatgctctatgagtaatatatcagtgtttctgtta
tcccacaaatgttttggatattacattcatggtagatcagtacatgggcatgcagatact
aatatggaagaaatgaatatgaaccttaaaagagaagcggaaaatttgtgtagccagaga
ggtttggtacccaacacagatggtcagacttttgagattgcaatttctaaccagatgaga
caacattatgacagaattcatgagacactaataaggaaaaatggtcctgctagactactg
agttcatcagcaagtacttttgagcagagtataaaagcatatcatatgatgaataaattt
cttggctccttcattgaccatgttcataaggaaatggattactttataaaagataagttg
cttcttgaaagaattcttggaatggaattcatggaaccaatggaaaaaagcatcttttac
aatgatgaaggttattctttcagcagtgtcctgtattatggaaatgaagctactcttctt
atttttgatctgctgttcttctgtgttgtggatttggcttgccaaaattttattttagca
tccttccttacatatctacaacaagagatttttagatatatccgtaatacagtaggacaa
aagaatttggcatccaaaacattggtggatcaaagatttttgatttaa

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Ontology (2)   
   KEGG BRITE (2)   
Disease (11)   
   KEGG DISEASE (4)   
   OMIM (7)   
Genome (1)   
   KEGG GENOME (1)   
Gene (40)   
   KEGG ORTHOLOGY (1)   
   RefGene (24)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (10)   
   OC (1)   
Protein sequence (12)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (10)   
DNA sequence (60)   
   RefSeq(nuc) (24)   
   GenBank (18)   
   EMBL (18)   
3D Structure (1)   
   PDB (1)   
Protein domain (1)   
   Pfam (1)   
All databases (128)   

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